congenital-generalized-lipodystrophy-a-multisystemic-metabolic-disorder-international-journal-of-clinical-endocrinology-and-metabolism-peertechz-journals
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Introduction: Congenital generalized lipodystrophy or Berardinelli-Seip syndrome is a rare autosomal recessive multisystem disorder characterized by the near absence of subcutaneous and visceral adipose tissue from birth or early infancy with severe insulin resistance.
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congenital-generalized-lipodystrophy-a-multisystemic-metabolic-disorder-international-journal-of-clinical-endocrinology-and-metabolism-peertechz-journals
- 1. International Journal of Clinical Endocrinology and Metabolism Peertechz Journals
- 2. Case Report Congenital Generalized Lipodystrophy: A Multisystemic Metabolic Disorder Vishal V Tewari*, Ritu Mehta and Kunal Tewari *Corresponding author: Dr, Vishal V Tewari, MD (Pediatrics), DNB (Neonatology), MNAMS, Department of Pediatrics, Army Hospital (Referral & Research), NewDelhi-110010, India, Tel: +91-8826118889; Dates: Received: 08 February, 2016; Accepted: 20 April, 2016; Published: 21 April, 2016 Citation: Tewari VV, Mehta R, Tewari K (2016) Congenital Generalized Lipodystrophy: A Multisystemic Metabolic Disorder. Int J Clin Endocrinol Metab 2(1): 005-007.
- 3. Abstract Introduction: Congenital generalized lipodystrophy or Berardinelli-Seip syndrome is a rare autosomal recessive multisystem disorder characterized by the near absence of subcutaneous and visceral adipose tissue from birth or early infancy with severe insulin resistance. It is caused by mutations in the gene for AGPAT-2 on chromosome 9 or BSCL-2/Seipin on chromosome 11 resulting in triglyceride-depleted adipocytes. BSCL-2/Seipin is a cell autonomous regulator of lipolysis essential for adipocyte differentiation. Case: A 6-year-old male child presented with abdominal distention. He was noted to have a characteristic phenotype with generalized absence of subcutaneous fat over the body with acanthosis nigricans and hepatomegaly. His anthropometric indices were above the 75th centile for age and he was in sexual maturity rating Stage II. Investigations revealed hyperglycemia, hypercholesterolemia with fatty infiltration of liver and hyperinsulinemia with normal Growth hormone levels and accelerated bone age. The clinical features, pathogenesis, management and prognosis are discussed.
- 4. Thank you For more information Read Online Article… http://www.peertechz.com/Clinical-Endocrinology-Metabolism/IJCEM-1-113.pdf For Full Article PDF